ClinVar Miner

List of variants in gene ZEB2 reported as pathogenic by GeneDx

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter) rs786204815
NM_014795.4(ZEB2):c.1038del (p.Asn346fs) rs886039655
NM_014795.4(ZEB2):c.1053_1058delinsAAGAA (p.Ser352fs) rs1573717593
NM_014795.4(ZEB2):c.1091_1092dup (p.Ala365fs) rs886041601
NM_014795.4(ZEB2):c.1102C>T (p.Gln368Ter) rs886041338
NM_014795.4(ZEB2):c.1135_1138dup (p.Ser380delinsThrTer) rs1553961749
NM_014795.4(ZEB2):c.1172_1176del (p.Lys391fs) rs1553961746
NM_014795.4(ZEB2):c.1426dup (p.Met476fs) rs587776604
NM_014795.4(ZEB2):c.1451C>A (p.Ser484Ter) rs886041698
NM_014795.4(ZEB2):c.1467T>A (p.Tyr489Ter) rs1553961705
NM_014795.4(ZEB2):c.1640C>G (p.Ser547Ter) rs1573716795
NM_014795.4(ZEB2):c.178_190delinsGTT (p.Thr60fs) rs730881215
NM_014795.4(ZEB2):c.1792C>T (p.Gln598Ter) rs2149877058
NM_014795.4(ZEB2):c.1821_1824del (p.Asn607fs) rs1057518193
NM_014795.4(ZEB2):c.1825G>T (p.Glu609Ter) rs1553961655
NM_014795.4(ZEB2):c.1843C>T (p.Gln615Ter)
NM_014795.4(ZEB2):c.1921del (p.Ser641fs) rs730881209
NM_014795.4(ZEB2):c.2037del (p.Ile679fs)
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014795.4(ZEB2):c.2100C>G (p.Tyr700Ter) rs1057518156
NM_014795.4(ZEB2):c.2228_2229del (p.Ser743fs) rs730881211
NM_014795.4(ZEB2):c.232del (p.Leu78fs) rs1573743888
NM_014795.4(ZEB2):c.2467C>T (p.Gln823Ter)
NM_014795.4(ZEB2):c.2501del (p.Lys834fs) rs587784565
NM_014795.4(ZEB2):c.2578_2579dup (p.Leu860_Asn861insTer) rs1573715510
NM_014795.4(ZEB2):c.2718del (p.Ala907fs)
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter) rs587784566
NM_014795.4(ZEB2):c.289del (p.Trp97fs) rs727503784
NM_014795.4(ZEB2):c.2908C>T (p.Gln970Ter) rs1057518185
NM_014795.4(ZEB2):c.3002del (p.Cys1001fs) rs730881212
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter) rs886041989
NM_014795.4(ZEB2):c.3058G>T (p.Glu1020Ter)
NM_014795.4(ZEB2):c.3067+1G>A rs1131691714
NM_014795.4(ZEB2):c.3073del (p.Arg1025fs) rs730881217
NM_014795.4(ZEB2):c.3195dup (p.His1066fs) rs730881213
NM_014795.4(ZEB2):c.3206C>A (p.Ser1069Ter) rs1553960778
NM_014795.4(ZEB2):c.3213dup (p.Gln1072fs) rs1553960776
NM_014795.4(ZEB2):c.3243C>A (p.Cys1081Ter) rs1560602156
NM_014795.4(ZEB2):c.3499del (p.Ser1167fs) rs730881218
NM_014795.4(ZEB2):c.350_351del (p.Asp116_Tyr117insTer)
NM_014795.4(ZEB2):c.351dup (p.Asp118Ter) rs1131691309
NM_014795.4(ZEB2):c.379del (p.Gln127fs) rs886041489
NM_014795.4(ZEB2):c.64del (p.Arg22fs) rs1131691756
NM_014795.4(ZEB2):c.674C>A (p.Ser225Ter) rs797046122
NM_014795.4(ZEB2):c.760_761del (p.Thr254fs) rs587776605
NM_014795.4(ZEB2):c.855dup (p.Glu286fs) rs1131691912
NM_014795.4(ZEB2):c.857_858del (p.Glu286fs) rs1573718630
NM_014795.4(ZEB2):c.891_892delinsAT (p.Lys298Ter) rs1573718600
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter) rs587784571
NM_014795.4(ZEB2):c.997A>T (p.Lys333Ter) rs1553961777
NM_014795.4(ZEB2):c.999del (p.Lys333fs) rs730881208
Single allele

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